X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect.
D004796:Clinical Enzyme Tests; D005964:Glucosyltransferases / Q000097:blood*; D006801:Humans; D008722:Methods; D009422:Nervous System Diseases / Q000150:complications*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D012652:Self Mutilation / Q000150:complications*; D014527:Uric Acid / Q000652:urine*
D014527:Uric Acid; D005964:Glucosyltransferases